Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Glu122Lys (p.E122K)
(
ENST00000647020.1,
ENST00000335295.4 )
HBB p.Glu122Lys (p.E122K) ( ENST00000335295.4, ENST00000647020.1 ) - Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.364G>A (p.Glu122Lys) AND HEMOGLOBIN EGYPT
- ClinVar Allele ID
- 30331
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.364G>A
- Clinical Significance Description
- other
- Clinical Significance Last Update
- 2017-12-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016525
- Observed Origin Sample
- germline
- Pubmed
- 5619995
- Pubmed
- 20788973
- Pubmed
- 3840039
- Pubmed
- 5915974
- Pubmed
- 14973
- Pubmed
- 6246994
- Pubmed
- 5609824
Drugs